Surgical Management of a Bowel Obstruction Secondary to a Volvulus in a Paediatric Patient with Bohring Opitz Syndrome
Bohring Opitz syndrome (BOS) is a rare genetic disorder characterized by distinctive craniofacial features, a typical flexion posture, developmental delay, and multisystem involvement. Occurring as a result of a de novo pathogenic variant in the ASXL1 gene which disrupts chromatin remodelling and regulation of HOX gene expression. HOX gene expression is essential for normal embryological development. While feeding difficulties are a well-recognized and documented feature of BOS, their underlying mechanisms remain poorly understood. In this case report we describe a nine-year-old boy with genetically confirmed BOS who presented with a two history of progressive abdominal distension, vomiting, and inaudible bowel sounds. Imaging revealed high-grade obstruction, and emergent laparotomy demonstrated a colonic volvulus with ischemia affecting two thirds of the proximal colon. However most notably, the colon exhibited a complete absence of peritoneal fixation, allowing excessive mobility and predisposing to volvulus. Partial colectomy with ileocolic anastomosis and fixation of the remaining colon was performed, with excellent postoperative recovery.
This case highlights the potential aetiology of colonic non-fixation—an embryologic error linked to disrupted HOX gene regulation—as a contributing factor to the significant feeding intolerance commonly seen in BOS. Increased colonic mobility may impair intestinal transit and predispose to obstruction, compounding the neurogenic and motility-related issues previously hypothesised.
DOI: 10.29245/2572-9411/2026/1.1223 View / Download PdfDevelopment of Ileus in Edwards Syndrome with Exceptional Longevity
Background: Edwards syndrome, or trisomy 18, is a rare condition often incompatible with life. Gastrointestinal complications of this syndrome are documented in the infant period, however, motility disorders in adult survivors have not been previously reported. We present a case of intestinal ileus in a 29 year old male with Edwards syndrome.
Case: A 29-year-old male with Edwards syndrome presented to the emergency department with gastrointestinal complications at his group home. His medical history includes hypothyroidism, severe intellectual disability, and contracted body habitus. The patient was admitted to the hospital with intestinal ileus secondary to his antipsychotic medications.
Conclusions: Documented cases of Edwards syndrome in adulthood are limited. Our case presents an unexplored manifestation of gastrointestinal complications secondary to medication. Clinicians should be aware of the side effects of antipsychotic medications when caring for patients with the condition.
DOI: 10.29245/2572-9411/2026/1.1224 View / Download PdfUnderstanding the Psychosocial Challenges of K-12 Students with Rare Diseases: A Systematic Literature Review
Background: Students with rare diseases in the United States face significant psychosocial challenges within the K-12 education system that extend beyond the physical dimensions of their conditions and deeply affect their emotional, social, and academic lives.
Methods: A systematic literature review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to identify and synthesize peer-reviewed literature on the psychosocial challenges faced by K-12 students with rare diseases in the United States.
Results: Three overarching themes emerged from the evidence. First, a pervasive lack of awareness among educators, school administrators, and peers regarding rare diseases and their impact on students. Second, significant adverse psychosocial challenges, including stigma, bullying, depression, social isolation, and anxiety, are experienced by students and their families. Third, a critical shortage of accessible resources and structured support systems for students with rare diseases navigating the K-12 education environment.
Conclusions: The findings confirm an urgent need for sustained long-term research, comparative studies, structured investment in stakeholder education, policy prioritization, and enhanced comprehensive collaboration. Addressing these gaps is essential to ensuring equitable educational access and improved quality of life for K-12 students with rare diseases in the United States.
DOI: 10.29245/2572-9411/2026/1.1228 View / Download Pdf